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Article

H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2000

Zou Zhang-Yu, Liu Ming-Sheng, Li Xiao-Guang, Cui Li-Ying

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by progressive loss of motor neurons in the motor cortex, brainstem, and spinal cord. Over 60% of patients die from respiratory failure within three years of presentation. We report two ALS patients carrying the p.H46R missense mutation in the SOD1 gene presented with a characteristic clinical phenotype of very slow progression. We...

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Identifiers

PMID: 27348463
DOI: 10.1080/21678421.2016.1199698

Genes

SOD1

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